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Task B-006 · Type B — Disease → gene association
Which gene is primarily responsible for osteogenesis imperfecta, and what protein does it encode?
Difficulty
easy
Rarity stratum
high
Evidence type
primary_research + review
MONDO ID
MONDO:0019019
Curator notes
~90% of OI is caused by type I collagen gene mutations (COL1A1/COL1A2, per pubmed:29285457), but the corpus documents also mention rarer non-collagen causes (e.g. pubmed:40947476's SASH3 case) — a fully precise answer should note collagen genes are the PRIMARY but not sole cause.
Generation outcome
Abstained
Yes
Abstention correct
No
Gold in retrieved
2.00
Generation cost
$0.000220
Claims
0
Supported
0
Contradicted
0
Unverifiable
0
Gold documents (3)
- Current Overview of Osteogenesis Imperfecta.
- Osteogenesis imperfecta.
- Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention.
Retrieved documents (6)
- Fragile and Brittle Bone Disease or Osteogenesis Imperfecta: A Case Report.pubmed:33149419
- Osteogenesis Imperfecta.pubmed:29285457
- Current Overview of Osteogenesis Imperfecta.pubmed:34068551gold
- Osteogenesis imperfecta and therapeutics.pubmed:29540309
- Osteogenesis imperfecta. Report of 15 Cases.pubmed:30017614
- Osteogenesis imperfecta.pubmed:1580589gold
Generated claims (0)
No claims generated — the model abstained on this task.